Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation
The purpose of this study is to determine whether dietary cholic acid therapy benefits people with Smith-Lemli-Opitz syndrome (SLOS) by leading to an increase in plasma cholesterol and reduction in harmful cholesterol precursors. SLOS participants will be treated with dietary cholic acid for 8 weeks and plasma cholesterol and cholesterol precursor metabolites will be measured.
• Ages 2-25 years.
• Participants (or their parents/legally-authorized representative) must provide signed informed consent.
• Assent must be obtained from those participants ages 7-17 years who are intellectually capable of understanding this study.
• Diagnosis of SLOS based on clinical features and biochemical + genetic confirmation.
• Participants are capable of traveling to the STAIR study site.
• Fasting plasma cholesterol ≤125 mg/dL during the Qualification Phase must be established before starting cholic acid therapy.
• Clinically stable at the time of enrollment
• Participants must be on a constant dietary cholesterol intake for at least 3-months prior to treatment with cholic acid.
• Participants must agree to make no changes in cholesterol supplementation during the STAIR study.
• SLOS participants who are taking antioxidants will be included. Participants must agree to make no changes in the antioxidant dose during this study.
• For females of childbearing age (who have begun menstruating), a negative pregnancy test must be documented at the start of the study (week 0/ baseline) and at the end of cholic acid administration (week 8).